Canonical Allele Identifier: CA1955129276

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954644231

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408420_17408421del , CM000673.2:g.17408420_17408421del	GRCh38
NC_000011.9:g.17429967_17429968del , CM000673.1:g.17429967_17429968del	GRCh37
NC_000011.8:g.17386543_17386544del	NCBI36
NG_008867.1:g.73482_73483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2460_2461del
ENST00000529967.6:n.1050_1051del
ENST00000532220.2:n.523_524del
ENST00000642611.2:n.2860_2861del
ENST00000682051.1:n.2807_2808del
ENST00000682110.1:n.2860_2861del
ENST00000682140.1:c.2788_2789del	ENSP00000507829.1:p.Met930GlufsTer?
ENST00000682185.1:n.4096_4097del
ENST00000682204.1:c.*929_*930del	ENSP00000507094.1:n.*929_*930del
ENST00000682215.1:n.2857_2858del
ENST00000682288.1:c.*1222_*1223del	ENSP00000507506.1:n.*1222_*1223del
ENST00000682442.1:n.2981_2982del
ENST00000682528.1:n.2857_2858del
ENST00000682673.1:n.2804_2805del
ENST00000682805.1:n.2857_2858del
ENST00000682965.1:c.2788_2789del	ENSP00000508229.1:p.Met930GlufsTer?
ENST00000683093.1:n.2959_2960del
ENST00000683136.1:c.2788_2789del	ENSP00000507768.1:p.Met930GlufsTer?
ENST00000683153.1:n.3016_3017del
ENST00000683365.1:n.2962_2963del
ENST00000683377.1:n.2860_2861del
ENST00000683456.1:c.2791_2792del	ENSP00000508318.1:p.Met931GlufsTer?
ENST00000683522.1:n.2860_2861del
ENST00000683562.1:c.*960_*961del	ENSP00000508265.1:n.*960_*961del
ENST00000683693.1:n.2857_2858del
ENST00000683725.1:c.2791_2792del	ENSP00000507496.1:p.Met931GlufsTer?
ENST00000684010.1:n.2775_2776del
ENST00000684157.1:n.2860_2861del
ENST00000684253.1:n.2763_2764del
ENST00000684288.1:c.*963_*964del	ENSP00000507143.1:n.*963_*964del
ENST00000684313.1:n.2292_2293del
ENST00000684332.1:n.2933_2934del
ENST00000684371.1:n.2966_2967del
ENST00000684404.1:n.2857_2858del
ENST00000684442.1:n.2860_2861del
ENST00000684555.1:c.*1003_*1004del	ENSP00000507705.1:n.*1003_*1004del
ENST00000684571.1:c.2632_2633del	ENSP00000506935.1:p.Met878GlufsTer?
ENST00000684593.1:c.*2496_*2497del	ENSP00000507005.1:n.*2496_*2497del
ENST00000684711.1:c.*1187_*1188del	ENSP00000506841.1:n.*1187_*1188del
ENST00000302539.9:c.2794_2795del	ENSP00000303960.4:p.Met932GlufsTer?
ENST00000389817.8:c.2791_2792del MANE Select	ENSP00000374467.4:p.Met931GlufsTer?
ENST00000642271.1:c.2788_2789del	ENSP00000493749.1:p.Met930GlufsTer?
ENST00000642579.1:c.875_876del
ENST00000642611.1:n.2745_2746del
ENST00000642902.1:c.2626_2627del
ENST00000643260.1:c.2791_2792del	ENSP00000494450.1:p.Met931GlufsTer?
ENST00000643562.1:c.*767_*768del	ENSP00000496124.1:n.*767_*768del
ENST00000643925.1:c.835_836del
ENST00000644447.1:c.1147_1148del	ENSP00000496282.1:p.Met383GlufsTer?
ENST00000644484.1:c.*1000_*1001del	ENSP00000493558.1:n.*1000_*1001del
ENST00000644542.1:c.*2496_*2497del	ENSP00000495532.1:n.*2496_*2497del
ENST00000644675.1:c.*963_*964del	ENSP00000494567.1:n.*963_*964del
ENST00000644757.1:c.*1096_*1097del	ENSP00000495085.1:n.*1096_*1097del
ENST00000644772.1:c.2857_2858del	ENSP00000494321.1:p.Met953GlufsTer?
ENST00000645076.1:c.2043_2044del
ENST00000645744.1:c.*1155_*1156del	ENSP00000494564.1:n.*1155_*1156del
ENST00000645760.1:c.3066_3067del
ENST00000645884.1:c.2791_2792del	ENSP00000495516.1:p.Met931GlufsTer?
ENST00000646003.1:c.*847_*848del	ENSP00000495259.1:n.*847_*848del
ENST00000646207.1:c.*1155_*1156del	ENSP00000495025.1:n.*1155_*1156del
ENST00000646276.1:c.*1064_*1065del	ENSP00000496070.1:n.*1064_*1065del
ENST00000646592.1:c.2017_2018del
ENST00000646902.1:c.2788_2789del	ENSP00000494101.1:p.Met930GlufsTer?
ENST00000646993.1:c.*1187_*1188del	ENSP00000493720.1:n.*1187_*1188del
ENST00000647013.1:c.2797_2798del	ENSP00000496741.1:n.2797_2798del
ENST00000647015.1:c.2542_2543del	ENSP00000495389.1:p.Met848GlufsTer?
ENST00000647086.1:c.*2521_*2522del	ENSP00000493677.1:n.*2521_*2522del
ENST00000647158.1:c.*932_*933del	ENSP00000495744.1:n.*932_*933del
ENST00000302539.8:c.2794_2795del	ENSP00000303960.4:p.Met932GlufsTer?
ENST00000389817.7:c.2791_2792del	ENSP00000374467.3:p.Met931GlufsTer?
ENST00000526921.5:n.475_476del
ENST00000527905.5:c.2761_2762del	ENSP00000431653.1:p.Met921GlufsTer?
ENST00000529967.5:n.460_461del
NM_000352.4:c.2791_2792del	NP_000343.2:p.Met931GlufsTer?
NM_001287174.1:c.2794_2795del	NP_001274103.1:p.Met932GlufsTer?
XM_011520331.1:c.2791_2792del	XP_011518633.1:p.Met931GlufsTer?
XM_011520332.1:c.2794_2795del	XP_011518634.1:p.Met932GlufsTer?
XM_011520333.1:c.1291_1292del	XP_011518635.1:p.Met431GlufsTer?
XM_011520334.1:c.2794_2795del	XP_011518636.1:p.Met932GlufsTer?
XR_930890.1:n.2857_2858del
XR_930891.1:n.2857_2858del
XR_930892.1:n.2857_2858del
XR_930893.1:n.2854_2855del
NM_001351295.1:c.2857_2858del	NP_001338224.1:p.Met953GlufsTer?
NM_001351296.1:c.2791_2792del	NP_001338225.1:p.Met931GlufsTer?
NM_001351297.1:c.2788_2789del	NP_001338226.1:p.Met930GlufsTer?
NR_147094.1:n.2860_2861del
XM_017018197.2:c.2860_2861del	XP_016873686.1:p.Met954GlufsTer?
XM_017018199.1:c.2857_2858del	XP_016873688.1:p.Met953GlufsTer?
XM_017018201.2:c.2860_2861del	XP_016873690.1:p.Met954GlufsTer?
XM_017018202.1:c.1357_1358del	XP_016873691.1:p.Met453GlufsTer?
XM_017018204.1:c.748_749del	XP_016873693.1:p.Met250GlufsTer?
XM_024448668.1:c.1159_1160del	XP_024304436.1:p.Met387GlufsTer?
XR_001747945.2:n.2932_2933del
XR_001747946.2:n.2863_2864del
XR_002957189.1:n.2932_2933del
NM_000352.6:c.2791_2792del MANE Select	NP_000343.2:p.Met931GlufsTer?
NM_001287174.2:c.2794_2795del	NP_001274103.1:p.Met932GlufsTer?
NM_001351295.2:c.2857_2858del	NP_001338224.1:p.Met953GlufsTer?
NM_001351296.2:c.2791_2792del	NP_001338225.1:p.Met931GlufsTer?
NM_001351297.2:c.2788_2789del	NP_001338226.1:p.Met930GlufsTer?
NR_147094.2:n.2860_2861del
NM_001287174.3:c.2794_2795del	NP_001274103.1:p.Met932GlufsTer?